LOCUS       NM_145200               3991 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens calcium binding protein 4 (CABP4), transcript variant
            1, mRNA.
ACCESSION   NM_145200
VERSION     NM_145200.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3991)
  AUTHORS   Smirnov,V.M., Zeitz,C., Soumittra,N., Audo,I. and
            Defoort-Dhellemmes,S.
  TITLE     Retinal findings in a patient of French ancestry with CABP4-related
            retinal disease
  JOURNAL   Doc Ophthalmol 136 (2), 135-143 (2018)
   PUBMED   29525873
  REMARK    GeneRIF: CABP4-related retinal disease is a cone-rod system
            disorder with possible foveal abnormalities.
REFERENCE   2  (bases 1 to 3991)
  AUTHORS   Schatz,P., Abdalla Elsayed,M.E.A. and Khan,A.O.
  TITLE     Multimodal imaging in CABP4-related retinopathy
  JOURNAL   Ophthalmic Genet 38 (5), 459-464 (2017)
   PUBMED   28635425
  REMARK    GeneRIF: Foveal thinning is a feature of CABP4 retinopathy. Normal
            autofluorescence is consistent with inner retinal dysfunction and
            suggests the condition could be amenable to gene therapy. Retinal
            dysfunction was stable throughout follow-up.
REFERENCE   3  (bases 1 to 3991)
  AUTHORS   Dan,H., Song,X., Li,J., Xing,Y. and Li,T.
  TITLE     Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese
            patients with Schubert-Bornschein congenital stationary night
            blindness
  JOURNAL   Ophthalmic Genet 38 (3), 206-210 (2017)
   PUBMED   27428514
  REMARK    GeneRIF: In this study, a novel compound heterozygous mutation,
            c.[1A>G]; [608G>T] (p.[0?]; p.[W203L]), was identified in the LRIT3
            gene of a proband. No mutations were identified in the CABP4 or
            GPR179 gene.
REFERENCE   4  (bases 1 to 3991)
  AUTHORS   Hove,M.N., Kilic-Biyik,K.Z., Trotter,A., Gronskov,K., Sander,B.,
            Larsen,M., Carroll,J., Bech-Hansen,T. and Rosenberg,T.
  TITLE     Clinical Characteristics, Mutation Spectrum, and Prevalence of
            Aland Eye Disease/Incomplete Congenital Stationary Night Blindness
            in Denmark
  JOURNAL   Invest Ophthalmol Vis Sci 57 (15), 6861-6869 (2016)
   PUBMED   28002560
  REMARK    GeneRIF: Twenty-nine CACNA1F variations were detected among 34
            families in the total cohort, and a novel CABP4 variation was
            identified in one family.
REFERENCE   5  (bases 1 to 3991)
  AUTHORS   Taylor,T.D., Noguchi,H., Totoki,Y., Toyoda,A., Kuroki,Y., Dewar,K.,
            Lloyd,C., Itoh,T., Takeda,T., Kim,D.W., She,X., Barlow,K.F.,
            Bloom,T., Bruford,E., Chang,J.L., Cuomo,C.A., Eichler,E.,
            FitzGerald,M.G., Jaffe,D.B., LaButti,K., Nicol,R., Park,H.S.,
            Seaman,C., Sougnez,C., Yang,X., Zimmer,A.R., Zody,M.C.,
            Birren,B.W., Nusbaum,C., Fujiyama,A., Hattori,M., Rogers,J.,
            Lander,E.S. and Sakaki,Y.
  TITLE     Human chromosome 11 DNA sequence and analysis including novel gene
            identification
  JOURNAL   Nature 440 (7083), 497-500 (2006)
   PUBMED   16554811
REFERENCE   6  (bases 1 to 3991)
  AUTHORS   Haeseleer,F., Imanishi,Y., Maeda,T., Possin,D.E., Maeda,A., Lee,A.,
            Rieke,F. and Palczewski,K.
  TITLE     Essential role of Ca2+-binding protein 4, a Cav1.4 channel
            regulator, in photoreceptor synaptic function
  JOURNAL   Nat Neurosci 7 (10), 1079-1087 (2004)
   PUBMED   15452577
REFERENCE   7  (bases 1 to 3991)
  AUTHORS   Haeseleer,F., Sokal,I., Verlinde,C.L., Erdjument-Bromage,H.,
            Tempst,P., Pronin,A.N., Benovic,J.L., Fariss,R.N. and Palczewski,K.
  TITLE     Five members of a novel Ca(2+)-binding protein (CABP) subfamily
            with similarity to calmodulin
  JOURNAL   J Biol Chem 275 (2), 1247-1260 (2000)
   PUBMED   10625670
REFERENCE   8  (bases 1 to 3991)
  AUTHORS   Kumaran,N., Pennesi,M.E., Yang,P., Trzupek,K.M., Schlechter,C.,
            Moore,A.T., Weleber,R.G. and Michaelides,M.
  TITLE     Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   30285347
REFERENCE   9  (bases 1 to 3991)
  AUTHORS   Kurahashi,H. and Hirose,S.
  TITLE     Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301348
REFERENCE   10 (bases 1 to 3991)
  AUTHORS   Peter,F., Nguyen Van,P. and Soling,H.D.
  TITLE     Different sorting of Lys-Asp-Glu-Leu proteins in rat liver
  JOURNAL   J Biol Chem 267 (15), 10631-10637 (1992)
   PUBMED   1316906
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP003419.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 25, 2020 this sequence version replaced NM_145200.4.
            
            Summary: This gene encodes a member of the CABP family of calcium
            binding protein characterized by four EF-hand motifs. Mutations in
            this gene are associated with congenital stationary night blindness
            type 2B. Three transcript variants encoding two different isoforms
            have been found for this gene. [provided by RefSeq, Jul 2014].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY039217.1, SRR14038196.2108427.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142586, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000325656.7/ ENSP00000324960.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-436               AP003419.3         135819-136254
            437-467             AP003419.3         136653-136683
            468-611             AP003419.3         136764-136907
            612-721             AP003419.3         138038-138147
            722-869             AP003419.3         138836-138983
            870-3991            AP003419.3         139096-142217
FEATURES             Location/Qualifiers
     source          1..3991
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     gene            1..3991
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /note="calcium binding protein 4"
                     /db_xref="GeneID:57010"
                     /db_xref="HGNC:HGNC:1386"
                     /db_xref="MIM:608965"
     exon            1..436
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /inference="alignment:Splign:2.1.0"
     CDS             71..898
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /note="isoform a is encoded by transcript variant 1"
                     /codon_start=1
                     /product="calcium-binding protein 4 isoform a"
                     /protein_id="NP_660201.1"
                     /db_xref="CCDS:CCDS8166.1"
                     /db_xref="GeneID:57010"
                     /db_xref="HGNC:HGNC:1386"
                     /db_xref="MIM:608965"
                     /translation="MTTEQARGQQGPNLAIGRQKPPAGVVTPKSDAEEPPLTRKRSKK
                     ERGLRGSRKRTGSSGEQTGPEAPGSSNNPPSTGEGPAGAPPASPGPASSRQSHRHRPD
                     SLHDAAQRTYGPLLNRVFGKDRELGPEELDELQAAFEEFDTDRDGYISHRELGDCMRT
                     LGYMPTEMELLEVSQHIKMRMGGRVDFEEFVELIGPKLREETAHMLGVRELRIAFREF
                     DRDRDGRITVAELREAVPALLGEPLAGPELDEMLREVDLNGDGTVDFDEFVMMLSRH"
     exon            437..467
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /inference="alignment:Splign:2.1.0"
     exon            468..611
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /inference="alignment:Splign:2.1.0"
     exon            612..721
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /inference="alignment:Splign:2.1.0"
     exon            722..869
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /inference="alignment:Splign:2.1.0"
     exon            870..3991
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1432..1437
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /note="hexamer: AATAAA"
     polyA_site      1459
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /note="major polyA site"
     regulatory      2216..2221
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /note="hexamer: TATAAA"
     polyA_site      2237
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
     regulatory      2540..2545
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /note="hexamer: AATACA"
     polyA_site      2558
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /note="major polyA site"
     regulatory      3970..3975
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /note="hexamer: AATAAA"
     polyA_site      3991
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /note="major polyA site"
ORIGIN      
        1 agctttatgg gtcctgaaag ccaagggtgc ccaggggtgt ggtgtctctg agccctgtta
       61 tccctccccc atgaccacag agcaggcaag ggggcagcag ggcccaaatc tggccattgg
      121 ccgtcagaag ccccctgcgg gggttgtgac tcccaagagt gatgcagagg agcccccgtt
      181 gaccaggaag aggagcaaga aggagagggg gctccgaggg tctcgaaagc gcactggcag
      241 ctctggggag cagacaggcc ccgaggcccc ggggagcagc aataaccctc ccagcactgg
      301 agaggggccg gcgggcgcac cccctgcatc ccctgggccg gcctcttctc gccagtccca
      361 ccgacatcgt cctgactccc tgcacgacgc tgctcagagg acatacgggc ccctgctcaa
      421 tcgagtcttc gggaaggacc gcgaactggg ccccgaggag ctagacgagc ttcaggccgc
      481 cttcgaggag tttgacactg accgtgacgg ctacatcagc caccgggagc tgggtgactg
      541 catgcggacc ctgggctaca tgcccaccga gatggagctc ctggaggtct cgcagcacat
      601 caagatgcgc atgggcggcc gtgtggactt tgaggagttt gtagaactga taggcccaaa
      661 gctgagggag gagacggcgc acatgctggg ggtgcgagag ctgcgcatcg ccttccgaga
      721 gtttgacagg gacagggatg gacgaattac ggtggcggag ctgcgggagg cggtaccggc
      781 tctgctcggg gagccgctgg cgggtcctga gctggacgag atgctccgag aagtggacct
      841 caatggggat ggcaccgtag actttgacga gtttgtgatg atgctctccc gccactgagg
      901 ctccaggagg gaatatctgt tgcccctgcg gccccagaca ccagccagac ccaggctgca
      961 ggcctccccc aggagcctcc aggatggaga tggagaccca gcagccccca gactacttct
     1021 atccctgaaa acacctggcc tcaatgttgg cttgttatgt tacctgccca ccctcatcct
     1081 tacctcctcc tactcaagct gcctggagaa gacctgctct cagctgccca ccgttcctca
     1141 gtgtgagcaa gatttgggtc tctccagacc tctgggaggt agggagttcc ctggcactgg
     1201 cagcattcag tggggacccc ccagtggcat gatgaatgga gaggatggct ggaccccttc
     1261 cactacttat gtttataatt tttttttttt ttaatgaact tgagccgggt gcagtggctc
     1321 acacctgtaa gcccagctgt cagggggcag aagcgggagg atagcttgag cccaggagtg
     1381 caagacctgc ctgggcaata tactgagacc ccattctcca caaaaaggaa aaataaaaga
     1441 caaaaaaaca aacaaaaaac caaaaaaccc aagtgtaaaa aaagtgagct tgaaagaaag
     1501 aaagggatgg ctccatgtat caaagacaaa gaaatcaaag ctggggttgt aagagggagc
     1561 tgacgctgtg ggggtttcag atctggatgg aggcttggcc gcctggactc ctacaaccat
     1621 gagtgacaga agaaccatat gagtctgggg agcaagaaac aaaccccccg gatatattcc
     1681 agggtctcca aaggctaaga tattaatctg tctgcactga ccagtcatag aaagtggcaa
     1741 ggatacagat gttcagggcc cagagtggaa acagctgccc taaagagcct ggaactccag
     1801 ggcctgccct tcaagcaggc gtgtagtctc tctccagggt gtgaaaaact ggaaaaaaac
     1861 cctgccgctc ccaaagggga acttgtgata aaaattacag attattgggc tgggagtggt
     1921 ggctcacgcc tgtaatccca gcactttggg aggctgaggc gggtgaatta cctgaggtca
     1981 ggagtttgag gccagcctga ccaacatggt gaaaccccat ctctactaaa aatacaaaaa
     2041 ttaactgggc gaggtagcat gcacctgtaa tctcagctac tcggaggttg aggcaggaga
     2101 atcgcttgag cccgggaggt ggagctgcag tgagctgaga tcacaccatt gcaccccagc
     2161 ctgagcaaca gatcgagact ccgtctcaaa aacaaaacaa aaaaaccata ctgattataa
     2221 aagtaaagaa accaccatga aggagacgag acagagacaa aaacaagagg actggcatct
     2281 cagtgtacat aatacagccg cctaagagac cacaagatac atgcaaataa aagacggcta
     2341 aaaggggaag agagatcaac atgcagtaac aggatagtat gaagagagaa ccggaagatt
     2401 taaaaagtaa cccaacaggc caggcgcatg gctcatgcct ggaatcccag cactttggga
     2461 ggccaaggtg ggtgggttgc ttgagctcag gaattcgaga ccagcctggg caacatggtg
     2521 aaaccctgtc tctactaaaa atacaaaaat tagccaggcg tggtggtgct tgcatctgtg
     2581 gtcccaggta ttctacaggc tgaggtggga ggatcacttg agcccaggag gcagaggttg
     2641 cagtgagtcg agatcgcacc actgcactcc agcgtgggta acagagtgag aatccgtcaa
     2701 aaagaaaaaa acaaaccatg gcttctgtta aaaaaataaa gtatatttta tatatacaca
     2761 cacacacaca cacacacaca cagccattgg aatgaaaaaa taatggataa gctaaacagc
     2821 agattaaaca caatttaaag attaatgaac tggaagctat atctaagaaa tcacttataa
     2881 tgtaacactg agagacaaaa ggatggaaaa tattacaggg tagttaaaag tcactggaag
     2941 gctgggtgtg gtggctcacg cctgtaatcc cagcactttg ggaggctgag acgggcgggt
     3001 cacagggtca ggagatcgag accatcctgg ctaacacagt gaaaccccat ctctactaaa
     3061 aatacaaaaa aaaattagct gggcgtggtg gcgggcgcct gtagtcccag ctactaggga
     3121 ggctgaggca agagaatggc gtgaacccag gaggcggagc ttgcagtgag ccgagattgc
     3181 accactgcac tccagcctgg gctacagagc gagactccgt ctcggaaaaa aaaaaaaaaa
     3241 aaggtcactg gaagactggg tgtggtggct tatgcctgta atcccagcat tttgggaggc
     3301 taaggcagga ggatcacttg aggccaggag tttgagacca gcctaacagc aagaccctgc
     3361 ctcttaaaaa aaataataaa aaaataagct gggtgtagtg gctcatgctt gtagttccag
     3421 ctattcagga ggctgaggtg agaggatcat ttgagcccag gagttggagg ctgcagtgat
     3481 cgtgccactg cactccagcc ttggtgacag agcaagagac cctgtctcaa agaaaaagac
     3541 agataagtcc ttgggagtct cagacggagg acatacatag agaatgaaca agaagcaata
     3601 accaaagaga taatggctga aaattttcca taaagacttc cacagacttc aactccccag
     3661 attgaaggaa caaactgaag tcagagtagg gtaaataaaa ataaatatat atctggatat
     3721 atcccattga aaccacagaa tataaaaagc aaatcttata aataactgga gagaaaagtc
     3781 agattcacgg tgttctgtca aagtgttcat gtagactaag ggtggggaaa ctttctgtaa
     3841 agggctggag aataattatt ttcagctttg aggctttggt ctctgttgca gctgctcacg
     3901 caactctgct gttgaagttt gtagtgcaaa gtcaagtcaa caaatgagtg tggctatatc
     3961 agaaatttta ataaataaca gtaaaacttc a
//
